Search filters

List of works by Lenka Piherová

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

scientific article published on 27 July 2016

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

scientific article published on 29 March 2020

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. ⬇️

scientific article

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.

scientific article

Mutations in ANTXR1 cause GAPO syndrome.

scientific article published on 18 April 2013

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

scientific article

Oligonucleotide-based microarray: a new improvement in microarray detection of plant viruses.

scientific article published in September 2005

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

scientific article published on 13 June 2020

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.

scientific article published on 14 June 2016

Paulina is supported by:

About Paulina

Help